Search Results (443)

Information system design and implementation require generally accepted norms, principles, and standards. Lately, the challenge for achieving a high degree of general acceptance has increased with the presence of formal governance structures. Compliance with norms for information system development depends on the shared recognition of regulations and standards. The research problem in this study concerns standards and their role in the development of a pathology laboratory information system. In this paper, in the theoretical background section, the authors present regulations, standards, and disease classification, which are necessary for planning the pathology laboratory information system. Next, in the template design project section, the authors focus on development of a new, ontology-based, and standard-oriented approach for elaboration of a standardized template of the pathological assessment of histopathology material. Authors use the World Health Organization (WHO) ICD-11 classification to elaborate on that template, which permits the precise coding of diagnoses and medical procedures. The main findings concern the proposed ontology-based document template, which can further be used in the Laboratory Information Management System (LIMS), and as such can be considered a pattern for the development of other LIMS documents. In conclusion, the authors emphasized the standardized method application for designing and implementing medical documents. This original contribution concerns the assessment template design based on existing ontologies ICD-10 and ICD-11. Full article

Background and Objectives: As maternal mortality has become increasingly rare in developed countries, it is no longer a reliable metric for evaluating obstetric care quality. To address this limitation, the World Health Organization (WHO) introduced the concept of maternal near miss (MNM)—a term adapted from aviation—to standardize the identification and analysis of severe maternal complications. In addition to MNM, various indices are used to assess both access to and the quality of healthcare services. Materials and Methods: This retrospective study evaluated all pregnant women who presented at Başakşehir Çam and Sakura City Hospital, including postpartum referrals, between May 2020 and May 2023. Given the ongoing COVID-19 pandemic during the study period, data from COVID-19-positive patients were reported separately. All definitions and classifications were based on the standardized WHO MNM criteria. Results: A total of 45,458 births occurred at our institution during the study period. Among the COVID-19-excluded cohort, we identified 223 life-threatening conditions (LTCs), 206 MNM cases, and 17 maternal deaths. The resulting mortality index was 7.62%. The most frequent primary diagnoses included placental invasion anomalies, severe preeclampsia, and uterine atony. The most common interventions among LTC cases were ICU admission, prolonged hospitalization, hysterectomy, and massive transfusion. Conclusions: Although the rates of LTCs, MNM, and maternal mortality (MM) are gradually declining, they remain essential metrics for assessing healthcare quality. This study reveals that, while tertiary centers may report higher-than-global-average indices, there remains a significant gap between current outcomes and ideal targets. Enhancing diagnostic training, optimizing intervention strategies, and implementing robust clinical algorithms are critical steps toward reducing severe maternal morbidity and mortality. Full article

Systemic light-chain (AL) amyloidosis is a challenging, complex and heterogeneous disease. AL amyloidosis is classified under the category of plasma cell neoplasms and other diseases with paraproteins in the fifth edition of the World Health Organization classification of lymphoid tumors. Epidemiological information is limited, largely due to its low incidence and the lack of a global network of population-based specific registries. Despite recent advances, AL amyloidosis is still considered an incurable disease. The presence of a precursor disease, particularly monoclonal gammopathy of uncertain significance, is the main consolidated risk factor. Limited knowledge about other risk factors precludes the possibility of establishing preventive measures. A relevant percentage of AL amyloidosis patients fulfill the current diagnostic criteria of multiple myeloma. Incidence should be evaluated in the setting of population-based studies. On the one hand, incidence shows a slightly increasing pattern. On the other hand, survival is progressively increasing. Consequently, prevalence is also rising. Early mortality, commonly associated with advanced heart involvement, remains a serious drawback to improve the outcome. Epidemiology represents the first level of heterogeneity in AL amyloidosis. Both genomic and clinical epidemiological research in systemic AL amyloidosis have a crucial role in the global strategy to combat this multifaceted disease. Full article

Neuroendocrine neoplasms (NENs) of the lung are a biologically and clinically diverse group of tumors that includes well-differentiated typical and atypical carcinoids (LNETs), as well as poorly differentiated large-cell neuroendocrine carcinoma and small-cell lung cancer. Despite their relative rarity, the incidence of LNETs is increasing, primarily due to advancements in diagnostic techniques and heightened clinical awareness. While the current World Health Organization (WHO) classification offers a morphological basis for diagnosis and prognosis, particularly for extrapulmonary neuroendocrine neoplasms (ep-NENs), it has limitations in predicting the clinical behavior of pulmonary carcinoids. Recent evidence highlights the inadequacy of traditional criteria in fully capturing the biological complexity and clinical heterogeneity of these tumors. This review explores the evolving landscape of LNETs, focusing on well-differentiated forms and analyzing current classification systems, clinicopathological features, and the emerging role of novel prognostic and predictive biomarkers. Advances in histopathology and molecular profiling have begun to elucidate distinct molecular subsets within carcinoids, offering potential avenues for improved risk stratification and therapeutic decision-making. Although there are limited treatment options for advanced disease, new insights into tumor biology could facilitate the development of personalized therapeutic strategies and pave the way for future innovations in LNET management. Full article

Acute lymphoblastic leukemia (ALL) is a heterogeneous hematologic malignancy defined by the uncontrolled proliferation of lymphoid precursors. Accurate diagnosis and effective therapeutic strategies hinge on a comprehensive understanding of the genetic and molecular landscape of ALL. This review synthesizes the latest updates in cytogenetic and molecular classifications, emphasizing the 2022 World Health Organization (WHO) and International Consensus Classification (ICC) revisions. Key chromosomal alterations such as BCR::ABL1 and ETV6::RUNX1 and emerging subtypes including Ph-like ALL, DUX4, and MEF2D rearrangements are examined for their prognostic significance. Furthermore, we assess novel diagnostic tools, notably next-generation sequencing (NGS) and optical genome mapping (OGM). While NGS excels at identifying point mutations and small indels, OGM offers high-resolution structural variant detection with 100% sensitivity in multiple validation studies. These advancements enhance our grasp of leukemogenesis and pave the way for precision medicine in both B- and T-cell ALL. Ultimately, integrating these innovations into routine diagnostics is crucial for personalized patient management and improving clinical outcomes. Full article

Background: Cardiac tumors are rare neoplasms with a wide spectrum of clinical presentations, ranging from asymptomatic cases to fatal outcomes. According to the 2021 thoracic tumor classification of the World Health Organization (WHO), papillary fibroelastoma (PFE) is the most common primary cardiac tumor. This study aimed to aggregate and examine data regarding the prevalence, clinical characteristics, and histological results of cardiac tumors. Methods: This multicenter retrospective study was conducted across seven tertiary care institutions and included 274 patients diagnosed with histopathologically confirmed cardiac tumors between January 2013 and December 2024. Results: This study included 274 patients, with an average age of 52.6 ± 16.6 years. Of the study participants, 120 (43.8%) were male and 154 (56.2%) were female. The most prevalent clinical manifestations were dyspnea (43.7%), thoracic pain (22.5%), and cardiac palpitations (21.1%). Echocardiography was the principal diagnostic method, revealing an average tumor size of 3 cm. The most commonly observed mass was cardiac myxoma (CM) in 192 patients (70.1%). The second most frequently detected mass was PFE (28 cases, 10.2%). The third most common cardiac mass was a metastatic tumor (6.9%). Surgical resection was performed in all patients, with infection being the most prevalent consequence, followed by effusion. Conclusions: Cardiac tumors, albeit uncommon, provide considerable diagnostic and treatment difficulties. Our research is founded on an extensive case series that has been histopathologically validated and sourced from various national tertiary centers. This comprehensive dataset offers epidemiological and clinical insights regarding heart tumors in Turkey. Another key finding of our study is that, even though the 5th edition of the 2021 WHO Classification of Thoracic Tumors lists PFE as the most common primary cardiac tumor, myxoma is actually the most common primary cardiac tumor in our study and in many other studies. This finding demonstrates a significant discrepancy between the current international classification and real-world data and suggests that tumor distribution may be related to regional and demographic differences. Full article

Background/Objectives: The body mass index (BMI) is considered a key method for the classification of individuals’ weight status, according to cut-off points proposed by the World Health Organization (WHO); however, the use of this classification is still the subject of debate and criticism. We aimed to evaluate the accuracy of the WHO BMI classification in reflecting true adiposity in the Italian general population. Methods: This cross-sectional study included 1351 adults of mixed gender aged between 18 and 98 years, comprising 19 (1.4%) underweight individuals, 787 (58.3%) normal weight, 354 (26.2%) overweight, and 191 (14.1%) with obesity according to the WHO BMI. After that they were re-categorized according to adiposity based on body fat percentage (BF%) measured by dual-energy X-ray absorptiometry (DXA). The agreement between the two classification systems was tested using the kappa statistic (κ), with the system based on BF% being considered the gold standard. Results: According to the BMI classification, 78.1% of the individuals who were in the normal weight range were correctly classified. However, 53.4% of the overweight group and 68.4% of the underweight group were misclassified according to the BMI, as the majority of those misclassified fell within the normal weight range according to their BF%. Finally, regarding the obesity group, 34% who were classified as having obesity according to the BMI were misclassified, since they were revealed to be only affected by overweight according to adiposity status. Conclusions: Despite the fact that the BMI seems to be reliable in determining body weight status in the normal weight range, over a third of the general population was misclassified, as the current BMI classification appears to inflate the prevalence of underweight, overweight, and obesity among the general population. Accordingly, this may warrant consideration of revising the National Guidelines in Italy related to weight status classification. Healthcare practitioners should be advised not to rely solely on the BMI, and should integrate its use with adiposity measures (i.e., BF%) or alternative surrogate indicators (i.e., waist-based) in routine evaluations, especially in those with a BMI below or above 18.5 kg/m² or 25 kg/m². Full article

Background/Objectives: The maternal mortality ratio is one of the global health indicators, and cardiopathies are the leading indirect causes of maternal deaths. Proper management of pregnant women with heart disease is crucial, as the severity of these conditions can lead to complications during the perinatal period. This study aimed to evaluate the rate of severe maternal morbidity and associated factors in pregnant women with heart disease. Methods: A retrospective cohort study was conducted at a referral hospital in São Paulo from 2008 to 2017, including pregnant women with heart disease who underwent procedures in the obstetric center (n = 345). Sociodemographic, obstetric, and pre-existing conditions were analyzed, along with life-threatening conditions, near-miss events, and maternal deaths. Heart diseases were classified according to the World Health Organization (WHO) guidelines, and health indicators were calculated using WHO-recommended formulas. The Chi-square test or Likelihood Ratio test (p < 0.05) was used to compare severe maternal morbidity among women with heart disease. Results: The mean age of participants was 29.1 ± 7.29 years; most were white (58.8%), had completed high school (37.9%), and were married (71.6%). The most frequent pre-existing conditions were hypertension (9.6%) and diabetes mellitus (9.3%). The mean gestational age at admission/delivery was 37 weeks. According to the WHO classification, most women were classified as “II/III” (31.6%). Life-threatening conditions included hemorrhagic complications (13.9%), hypertensive complications (5.8%), clinical complications (19.7%), and severe management conditions (31.6%). Near-miss events occurred in 6.4% of patients, with clinical criteria in 2.9%, laboratory criteria in 4.3%, and management criteria in 3.5%. The cesarean section rate was 51%. Patients classified as WHO III and IV presented more severe management conditions (p < 0.0001), and those in WHO IV had a higher occurrence of near-miss events (p = 0.0001). Maternal mortality was 0.9% (n = 3). Conclusions: The incidence of severe maternal morbidity was 25 cases (22 near-miss events + 3 maternal deaths), equivalent to 2.86 per 1000 live births, and was significantly associated with WHO classifications III and IV. Full article

Gliomas are incurable, heterogeneous brain tumors, with rare forms often constituting diagnostic and treatment challenges. Molecular diagnostics, mainly implemented through the World Health Organization (WHO) 2021 guidelines, have refined the classification, but highlight difficulties in diagnosing rare gliomas remain. This case series analyzes four patients with rare gliomas treated at the University Hospital, Ulm, between 2002 and 2024. Patients were selected based on unique histopathological features and long-term clinical follow-up. Clinical records, imaging, and histological data were reviewed. Molecular diagnostics followed WHO 2021 guidelines. Quality of life was assessed using standardized tools including the EQ-5D-5L, EQ VAS, the Distress Thermometer, and the Montreal Cognitive Assessment (MoCA). In the first case, a 51-year-old male’s diagnosis evolved from pleomorphic xanthoastrocytoma to a high-grade glioma with pleomorphic and pseudopapillary features, later identified as a neuroepithelial tumor with a PATZ1 fusion over 12 years. Despite multiple recurrences, extensive surgical interventions led to excellent outcomes. The second case involved a young female with long-term survival of astroblastoma, demonstrating significant improvements in both longevity and quality of life through personalized care. The third case involved a patient with oligodendroglioma, later transforming into glioblastoma, emphasizing the importance of continuous diagnostic reevaluation and adaptive treatment strategies, contributing to prolonged survival and quality of life improvements. Remarkably, the patient has achieved over 20 years of survival, including 10 years of being both therapy- and progression-free. The fourth case presents a young woman with neurofibromatosis type 1, initially misdiagnosed with glioblastoma based on histopathological findings. Subsequent molecular diagnostics revealed a subependymal giant cell astrocytoma-like astrocytoma, highlighting the critical role of early advanced diagnostic techniques. These cases underscore the importance of precise molecular diagnostics, individualized treatments, and ongoing diagnostic reevaluation to optimize outcomes. They also address the psychological impact of evolving diagnoses, stressing the need for comprehensive patient support. Even in complex cases, extensive surgical interventions can yield favorable results, reinforcing the value of adaptive, multidisciplinary strategies based on evolving tumor characteristics. Full article

Nowadays, antimicrobial resistance (AMR) is a growing global health threat, with carbapenem-resistant Enterobacteriaceae (CRE) posing particular concern due to limited treatment options. In fact, CRE have been classified as a critical priority by the World Health Organization (WHO). Carbapenem resistance results from complex mechanisms, often combining the production of hydrolytic enzymes such as β-lactamases with reduced membrane permeability and efflux system induction. The Ambler classification is an effective tool for differentiating the characteristics of serine-β-lactamases (SβLs) and metallo-β-lactamases (MβLs), including ESβLs (different from carbapenemases), KPC, NDM, VIM, IMP, AmpC (different from carbapenemases), and OXA-48. Recently approved inhibitor drugs, such as diazabicyclooctanones and boronic acid derivatives, only partially address this problem, not least because of their ineffectiveness against MβLs. However, compared with taniborbactam, xeruborbactam is the first bicyclic boronate in clinical development with a pan-β-lactamase inhibition spectrum, including the IMP subfamily. Recent studies explore strategies such as chemical optimization of β-lactamase inhibitor scaffolds, novel β-lactam/β-lactamase inhibitor combinations, and siderophore–antibiotic conjugates to enhance bacterial uptake. A deeper understanding of the mechanistic properties of the active sites enables rational drug design principles to be established for inhibitors targeting both SβLs and MβLs. This review aims to provide a comprehensive overview of current therapeutic strategies and future perspectives for the development of carbapenemase inhibitor drug candidates. Full article

Background/Objectives: This study evaluates intratumoral susceptibility signals (ITSS) as imaging markers for glioma grade prediction and their association with molecular and histopathologic features, in the context of the fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System (WHO CNS5). Methods: We retrospectively analyzed patients with adult diffuse gliomas who underwent pretreatment magnetic resonance imaging. ITSS were semiquantitatively graded by two radiologists: grade 0 (no signal), grade 1 (1–5), grade 2 (6–10), and grade 3 (≥11). Relative cerebral blood volume (rCBV) and tumor volume were also obtained. Histopathologic features included tumor grade, Ki-67, mitotic count, necrosis, microvascular proliferation, and molecular alterations (isocitrate dehydrogenase [IDH], 1p/19q, cyclin-dependent kinase inhibitors 2A and 2B [CDKN2A/B], and p53). Regression models predicted tumor grade (low: 1–2, high: 3–4) using ITSS, tumor volume, and rCBV. ROC curves and diagnostic performance metrics were analyzed. Results: 99 patients were included. ITSS grading correlated with rCBV, tumor volume, mitotic count, Ki-67, and tumor grade (p < 0.001). ITSS grades 0–1 were associated with oligodendrogliomas and astrocytomas (p < 0.001), IDH mutations (p < 0.001), and 1p/19q co-deletions (p = 0.01). ITSS grades 2–3 were linked to glioblastomas (p < 0.001), necrosis (p < 0.001), microvascular proliferation (p < 0.001), and CDKN2A/B homozygous deletions (p = 0.02). Models combining ITSS with rCBV and volume showed AUC of 0.94 and 0.96 (p < 0.001), outperforming univariate models. Conclusions: Semiquantitative ITSS grading correlates with key histopathologic and molecular glioma features. Combined with perfusion and volumetric parameters, ITSS enhance non-invasive glioma grading, in alignment with WHO CNS5. Full article

Background/Objectives: The purpose of this study was to determine the incidence of salivary gland tumors based on age, gender, histological type, and localization over an eleven-year period at the University Hospital of Split. Methods: The medical records of the Department of Otorhinolaryngology with Head and Neck Surgery and the Department of Maxillofacial Surgery at the University Hospital of Split regarding salivary gland tumors were searched from January 2012 to December 2022. The current fifth World Health Organization (WHO) Classification of Head and Neck Tumors and its criteria were considered during that process. Results: Out of 404 patients, 211 (52.20%) were female and 193 (47.77%) male. The mean age was 60. There were four pediatric patients. Six patients had a combination of two different histological types of salivary gland tumors present simultaneously at the exact localization. Therefore, there were 410 histological types in total, 214 related to females and 196 to males. A total of 361 (88.05%) benign and 49 (11.95%) malignant primary salivary gland tumors were detected. The parotid gland was the predominant location (N = 361, 87.8%). There were no cases affecting the sublingual gland. Pleomorphic adenoma was the most common benign histological type (N = 169, 41.2%). The most common malignant histological types were adenoid cystic carcinoma (N = 9, 2.2%) and mucoepidermoid carcinoma (N = 9, 2.2%). The average incidences of salivary gland tumors in the 11 years for the four Dalmatian counties and the Republic of Croatia were 4.45/100,000 and 0.9/100,000, respectively. Conclusions: The results of this study, primarily the ones concerning histological types and localization, do not deviate from general knowledge about salivary gland tumors. Simultaneous and ipsilateral occurrence of different histological types is a rare and extremely valuable finding. The average incidence for Dalmatian counties and the Republic of Croatia is within the range of the International Agency for Research on Cancer estimates. Full article

Background: Early detection of severe dengue (SD) is crucial in preventing life-threatening complications. Despite its importance, comprehensive knowledge about these early indicators is still limited. This study aimed to identify predictors of SD in a hyperendemic region of Colombia. Methods: A cross-sectional analysis was conducted using data from 2018 to 2022, encompassing 233 patients. By utilizing the 2009 World Health Organization dengue classifications, cases were differentiated between severe dengue (SD) and non-severe dengue (non-SD). Among these, 47 were confirmed as SD. Associations between clinical, demographic, and laboratory data and disease severity were examined using Fisher’s exact tests or the Mann–Whitney U test (p < 0.05). Profiles for SD and non-SD cases were established through multiple correspondence analysis, and a logistic regression-based predictive model was validated using training and test sets. The model’s performance was evaluated using the area under the receiver operating characteristic curve (AUC-ROC), accuracy, sensitivity, F1-score, and precision. Results: Differences in place of residence, comorbidities, type of infection, and signs and symptoms were observed between the severe dengue (SD) and non-severe dengue (non-SD) groups. Median levels of platelets, white blood cells (WBC), aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were found to be higher in the SD group compared to the non-SD group. Neutrophils, leukocytes, platelets, AST, and primary infection were significant predictors of SD. The model demonstrated an area under the receiver operating characteristic curve (AUC) of 0.91 (95% CI, 0.85–0.96). Conclusions: The developed predictive model provides significant assistance to clinicians in assessing SD risk and optimizing triage, which is particularly crucial during dengue outbreaks. Full article

The Life Impact Burn Recovery Evaluation (LIBRE) Profile was developed to assess long-term social participation outcomes for adult burn survivors. Traditional clinical burn recovery outcomes focus on early physical complications and psychosocial issues, but there is a growing need for quantitative measures of long-term recovery that assess experiences deemed relevant to burn survivors. The LIBRE Profile, co-produced with input from burn survivors and clinicians and grounded in the World Health Organization’s International Classification of Functioning, Disability and Health (WHO-ICF) conceptual framework, addresses the measurement gap by focusing on six domains of social participation: social interactions, social activities, family and friends, work and employment, romantic relationships, and sexual relationships. The LIBRE Profile uses Item Response Theory (IRT) and computer adaptive tests (CAT) to minimize respondent burden while maintaining accuracy. Psychometric evaluations have validated the LIBRE Profile as a reliable and clinically useful tool that can help clinicians and burn survivors monitor recovery and inform personalized care. Future work includes LIBRE Profile development for pediatric populations, further international language translations, and the development of an APP for broader personal and clinical use. This paper provides a comprehensive overview of the LIBRE Profile’s development, psychometric foundations, and future directions, advocating for its adoption in clinical practice and burn survivor communities. Full article

Background: Although several studies investigated the efficacy of long-term adjuvant temozolomide (TMZ) therapy in glioblastomas (GBs), no univocal data are currently available, and this topic remains controversial. The present study on our ongoing experience aims to assess whether the extended STUPP protocol confers prognostic benefits with acceptable safety. Methods: From 2004 to 2018, 81 patients with a new diagnosis of GB according to the World Health Organization (WHO) 2021 classification, treated with gross total resection (GTR) or subtotal resection (STR), were enrolled. Patients were divided into Group A (long-term TMZ; N = 40) and Group B (standard STUPP protocol; N = 41). Results: In the extended STUPP group, compared with the standard STUPP group, progression-free survival (PFS) and overall survival (OS) were significantly improved (PFS: 27.8 vs. 7.5 months, p = 0.00001; OS: 35.9 vs. 11.3 months, p = 0.0001). To mitigate a potential survival bias, we focused on those in Group B who completed the recommended six cycles. Patients in Group A demonstrated a prolonged OS compared to Group B (27 vs. 10 months, p < 0.001). Similar findings were observed in a focused analysis of patients who had achieved a minimum survival of 12 months (27 vs. 15 months, p < 0.001) or 18 months (34 vs. 24 months, p = 0.044). Conclusions: Our analysis demonstrates a PFS and OS advantage with extended STUPP and suggests that young patients without corpus callosum invasion, with methylguanine-DNA methyltransferase (MGMT) promoter methylation, and treated with GTR are the best candidates. No significant safety difference emerged between extended and standard TMZ treatment. Full article